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PPKDFN
MCID: KRT058
MIFTS: 27
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Keratoderma, Palmoplantar, with Deafness (PPKDFN)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Keratoderma, Palmoplantar, with Deafness:
Characteristics:Orphanet epidemiological data:60
palmoplantar keratoderma-deafness syndrome
Inheritance: Autosomal dominant,Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy; OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
allelic to deafness, autosomal recessive 1, , deafness, autosomal dominant 3, , vohwinkel syndrome, , keratitis-ichthyosis-deafness syndrome, , hystrix-like ichthyosis with deafness, , bart-pumphrey syndrome, HPO:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Ear diseases Skin diseases
ICD10:
35
Orphanet: 60
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
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NIH Rare Diseases
:
54
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2202Disease definitionPalmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.Visit the Orphanet disease page for more resources.
MalaCards based summary : Keratoderma, Palmoplantar, with Deafness, also known as palmoplantar keratoderma with deafness, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and palmoplantar keratosis. An important gene associated with Keratoderma, Palmoplantar, with Deafness is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and palmoplantar keratoderma Genetics Home Reference : 26 Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds. UniProtKB/Swiss-Prot : 76 Keratoderma, palmoplantar, with deafness: An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high- frequency, sensorineural deafness.
Description from OMIM:
148350
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Diseases related to Keratoderma, Palmoplantar, with Deafness via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Keratoderma, Palmoplantar, with Deafness:60 33
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MalaCards organs/tissues related to Keratoderma, Palmoplantar, with Deafness:42
Skin
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Articles related to Keratoderma, Palmoplantar, with Deafness:
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Genes related to Keratoderma, Palmoplantar, with Deafness (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Keratoderma, Palmoplantar, with Deafness:76
ClinVar genetic disease variations for Keratoderma, Palmoplantar, with Deafness:6 (show all 34)
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Search
GEO
for disease gene expression data for Keratoderma, Palmoplantar, with Deafness.
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